The Prenatal Diagnosis of Facial Clefts with Fetal MRI

2010 ◽  
pp. 279-286
Author(s):  
Mariella Mailáth-Pokorny ◽  
Daniela Prayer
2019 ◽  
Vol 300 (1) ◽  
pp. 235-236
Author(s):  
Daisuke Matsubara ◽  
Hironori Takahashi ◽  
Shigeki Matsubara

2003 ◽  
Vol 12 (3) ◽  
pp. 143-153 ◽  
Author(s):  
Anne M Hubbard
Keyword(s):  

2008 ◽  
Vol 68 (2) ◽  
pp. 214-226 ◽  
Author(s):  
Denise Pugash ◽  
Peter C. Brugger ◽  
Dieter Bettelheim ◽  
Daniela Prayer

2015 ◽  
Vol 40 (3) ◽  
pp. 235-240 ◽  
Author(s):  
Mariana L. Meyers ◽  
Timothy Crombleholme

Prenatal diagnosis of Hirschsprung's disease is extremely rare and has only been suggested by ultrasound. This report presents a 29-week fetus with heterotaxy and polysplenia syndrome and prenatal diagnosis of nonrotation of the bowel and Hirschsprung's disease by fetal MRI. None of the previously reported findings in the literature suggestive of distal bowel obstruction were noted in this case. Rather, there was a diminutive size of the rectosigmoid compared to the rest of the colon. Fetal MRI has become an important tool in the fetal diagnosis of multiple anomalies and can aid in perinatal and immediate postnatal care of patients, such as those with Hirschsprung's disease.


2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Burcu Artunc Ulkumen ◽  
Halil Gursoy Pala ◽  
Nalan Nese ◽  
Serdar Tarhan ◽  
Yesim Baytur

Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options.


2021 ◽  
Vol 16 (12) ◽  
pp. 3950-3954
Author(s):  
Joana Diaz ◽  
Larry Matsumoto ◽  
Jennifer Kucera Neville

2019 ◽  
Vol 220 (1) ◽  
pp. S676
Author(s):  
Roni Zemet ◽  
Inna Amdur-Zilberfarb ◽  
Moran Shapira ◽  
Tomer Ziv-Baran ◽  
Chen Hoffmann ◽  
...  
Keyword(s):  

2020 ◽  
Vol 2020 ◽  
pp. 1-12
Author(s):  
Manuel Recio Rodríguez ◽  
Cristina Andreu-Vázquez ◽  
Israel J. Thuissard-Vasallo ◽  
Raquel Cano Alonso ◽  
Carmina Bermejo López ◽  
...  

There is some controversy about the value of fetal MRI in prenatal diagnosis, and most of the studies examine its accuracy in central nervous system (CNS) pathology. The objective of this retrospective study was to assess the diagnostic accuracy and usefulness of fetal MRI in the prenatal diagnosis of central nervous system (CNS) pathology and non-CNS pathology. Patients referred to the Radiology Department between 2007 and 2018 for a fetal MRI after detection of an anomaly in the fetal ultrasound, a high-risk pregnancy, or an inconclusive fetal ultrasound (n = 623) were included in the study. Postnatal diagnosis was used to assess the diagnostic accuracy of MRI. Fetal MRI was considered to provide additional information over fetal ultrasound when findings of the fetal MRI were not detected in the fetal ultrasound or when established a pathological condition that was not detected in the fetal ultrasound. Fetal MRI provided useful information for the perinatal management and prognosis over fetal ultrasound when findings of the fetal MRI changed the postnatal prognosis, leaded to the decision to legally terminate the pregnancy, changed prenatal or postnatal follow-up, or helped in the planning of prenatal or postnatal treatment. Fetal MRI offered an accurate diagnosis in 97% of cases (compared to 90.4% of fetal ultrasound; p < 0.001 ). Concordance between fetal ultrasound and fetal MRI was 92.1%. Fetal MRI provided additional information over fetal ultrasound in 23.1% of cases. In 11.6% of cases, the information was useful for the perinatal management and prognosis. In 45 cases (7.2%), fetal MRI was the only accurate diagnosis. In conclusion, fetal MRI has a superior diagnostic accuracy, especially in CNS pathology, and provides additional useful information in CNS, thoracic, and abdominal pathology.


2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Berrin Tezcan ◽  
Philip Rich ◽  
Amarnath Bhide

Wilm’s tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genotypic defects in WAGR syndrome have been well established. However, antenatal ultrasonographic presentation of this syndrome has never been reported. Prenatal diagnosis of this condition is possible in some cases with careful ultrasound examination of classical and nonclassical manifestations of this syndrome. The key point for this rare diagnosis was the decision to perform chromosomal microarray analysis after antenatal diagnosis of absent corpus callosum and absent cavum septum pellucidum, as this finding mandates search for potentially associated genetic disorders. We report a case of WAGR syndrome diagnosed prenatally at 29-week gestation. The diagnosis of the anomaly was based on two- and three-dimensional ultrasound as well as fetal MRI scan and microarray analysis. The ultrasonographic findings included borderline ventriculomegaly, absent corpus callosum, and absent cavum septum pellucidum. Cytogenetic results from the amniotic fluid confirmed WAGR syndrome. Parental karyotype was normal, with no evidence of copy number change, deletion, or rearrangement of this region of chromosome 11.


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